Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
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ORIGINAL ARTICLE
Year : 2012  |  Volume : 135  |  Issue : 1  |  Page : 31-35

Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy


1 Human Genome Centre, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
2 Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia; Department of Community Medicine & Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan
3 Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
4 Department of Biotechnology, Faculty of Applied Sciences, AIMST University, Kedah, Malaysia
5 Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

Correspondence Address:
B A Zilfalil
Associate Professor, Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kota Bharu, Kelantan
Malaysia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-5916.93421

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Background & objectives: Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes. Methods: A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR. Results: The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method. Interpretation & conclusions: Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.


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